Canonical Allele Identifier: CA2466435786

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688543_153688544delinsAC , CM000685.2:g.153688543_153688544delinsAC	GRCh38
NC_000023.10:g.152953998_152953999delinsAC , CM000685.1:g.152953998_152953999delinsAC	GRCh37
NC_000023.9:g.152607192_152607193delinsAC	NCBI36
NG_012016.1:g.5247_5248delinsAC
NG_012016.2:g.5247_5248delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-32_-31delinsAC (SLC6A8) MANE Select	ENSP00000253122.5:n.-32_-31delinsAC
ENST00000253122.9:c.-32_-31delinsAC (SLC6A8)	ENSP00000253122.5:n.-32_-31delinsAC
ENST00000458354.5:c.-3+271_-3+272delinsGT (PNCK)	ENSP00000401542.1:n.-3+271_-3+272delinsGT
ENST00000480693.1:n.64+271_64+272delinsGT (PNCK)
NM_001142805.1:c.-32_-31delinsAC (SLC6A8)	NP_001136277.1:n.-32_-31delinsAC
NM_005629.3:c.-32_-31delinsAC (SLC6A8)	NP_005620.1:n.-32_-31delinsAC
NM_005629.4:c.-32_-31delinsAC (SLC6A8) MANE Select	NP_005620.1:n.-32_-31delinsAC
NM_001142805.2:c.-32_-31delinsAC (SLC6A8)	NP_001136277.1:n.-32_-31delinsAC